Linked Data
ClinVar Variation Id:
1780789
ClinVar RCV Id:
RCV002410382
dbSNP Id:
rs778259447
ExAC:
9:34517287 A / C
gnomAD v2:
9-34517287-A-C
gnomAD v4:
9-34517289-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34517289A>C , CM000671.2:g.34517289A>C | GRCh38 |
| NC_000009.11:g.34517287A>C , CM000671.1:g.34517287A>C | GRCh37 |
| NC_000009.10:g.34507287A>C | NCBI36 |
| NG_008127.1:g.63477A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.1823A>C MANE Select | ENSP00000242317.4:p.His608Pro | |
| ENST00000242317.8:c.1823A>C | ENSP00000242317.4:p.His608Pro | |
| ENST00000442556.1:c.329+2550A>C | ||
| ENST00000470169.5:c.611A>C | ||
| ENST00000485580.1:n.399A>C | ||
| ENST00000614641.4:c.1835A>C | ENSP00000480538.1:p.His612Pro | |
| NM_001281428.1:c.1835A>C | NP_001268357.1:p.His612Pro | |
| NM_012144.3:c.1823A>C | NP_036276.1:p.His608Pro | |
| XM_006716758.2:c.1292A>C | XP_006716821.1:p.His431Pro | |
| XM_011517848.1:c.1577A>C | XP_011516150.1:p.His526Pro | |
| XM_006716758.3:c.1292A>C | XP_006716821.1:p.His431Pro | |
| XM_011517848.2:c.1577A>C | XP_011516150.1:p.His526Pro | |
| XM_017014625.2:c.1565A>C | XP_016870114.1:p.His522Pro | |
| XR_002956774.1:n.1926A>C | ||
| NM_012144.4:c.1823A>C MANE Select | NP_036276.1:p.His608Pro | |
| NM_001281428.2:c.1835A>C | NP_001268357.1:p.His612Pro |